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Article: Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c

TitleMutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c
Authors
Issue Date1999
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/febslet
Citation
Febs Letters, 1999, v. 459 n. 2, p. 255-258 How to Cite?
AbstractGlycogen storage diseases type 1 (GSD 1) are a group of autosomal recessive disorders characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Mutations of the glucose-6-phosphatase gene are responsible for the most frequent form of GSD 1, the subtype 1a, while mutations of the glucose-6-phosphate transporter gene (G6PT) have recently been shown to cause the non 1a forms of GSD, namely the 1b and 1c subtypes. Here, we report on the analysis by single-stranded conformation polymorphism (SSCP) and/or DNA sequencing of the exons of the G6PT in 14 patients diagnosed either as affected by the GSD 1b or 1c subtypes. Mutations in the G6PT gene were found in all patients. Four of the detected mutations were novel mutations, while the others were previously described. Our results confirm that the GSD 1b and 1c forms are due to mutations in the same gene, i.e. the G6PT gene. We also show that the same kind of mutation can be associated or not with evident clinical complications such as neutrophil impairment. Since no correlation between the type and position of the mutation and the severity of the disease was found, other unknown factors may cause the expression of symptoms, such as neutropenia, which dramatically influence the severity of the disease.
Persistent Identifierhttp://hdl.handle.net/10722/148140
ISSN
2015 Impact Factor: 3.519
2015 SCImago Journal Rankings: 2.026
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorGalli, Len_US
dc.contributor.authorOrrico, Aen_US
dc.contributor.authorMarcolongo, Pen_US
dc.contributor.authorFulceri, Ren_US
dc.contributor.authorBurchell, Aen_US
dc.contributor.authorMelis, Den_US
dc.contributor.authorParini, Ren_US
dc.contributor.authorGatti, Ren_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorBenedetti, Aen_US
dc.contributor.authorSorrentino, Ven_US
dc.date.accessioned2012-05-29T06:11:04Z-
dc.date.available2012-05-29T06:11:04Z-
dc.date.issued1999en_US
dc.identifier.citationFebs Letters, 1999, v. 459 n. 2, p. 255-258en_US
dc.identifier.issn0014-5793en_US
dc.identifier.urihttp://hdl.handle.net/10722/148140-
dc.description.abstractGlycogen storage diseases type 1 (GSD 1) are a group of autosomal recessive disorders characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Mutations of the glucose-6-phosphatase gene are responsible for the most frequent form of GSD 1, the subtype 1a, while mutations of the glucose-6-phosphate transporter gene (G6PT) have recently been shown to cause the non 1a forms of GSD, namely the 1b and 1c subtypes. Here, we report on the analysis by single-stranded conformation polymorphism (SSCP) and/or DNA sequencing of the exons of the G6PT in 14 patients diagnosed either as affected by the GSD 1b or 1c subtypes. Mutations in the G6PT gene were found in all patients. Four of the detected mutations were novel mutations, while the others were previously described. Our results confirm that the GSD 1b and 1c forms are due to mutations in the same gene, i.e. the G6PT gene. We also show that the same kind of mutation can be associated or not with evident clinical complications such as neutrophil impairment. Since no correlation between the type and position of the mutation and the severity of the disease was found, other unknown factors may cause the expression of symptoms, such as neutropenia, which dramatically influence the severity of the disease.en_US
dc.languageengen_US
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/febsleten_US
dc.relation.ispartofFEBS Lettersen_US
dc.subject.meshAntiporters - Geneticsen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshExonsen_US
dc.subject.meshGlycogen Storage Disease Type I - Enzymology - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshMonosaccharide Transport Proteins - Geneticsen_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshPolymorphism, Single-Stranded Conformationalen_US
dc.titleMutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1cen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/S0014-5793(99)01248-Xen_US
dc.identifier.pmid10518030en_US
dc.identifier.scopuseid_2-s2.0-0032826812en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0032826812&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume459en_US
dc.identifier.issue2en_US
dc.identifier.spage255en_US
dc.identifier.epage258en_US
dc.identifier.isiWOS:000083127600022-
dc.publisher.placeNetherlandsen_US

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